Cover Image

Citrin deficiency mimicking mitochondrial depletion syndrome

Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane.

Saved in:
Bibliographic Details
Main Authors: Grünert, Sarah (Author) , Schumann, A. (Author) , Freisinger, P. (Author) , Rosenbaum-Fabian, S. (Author) , Schmidts, M. (Author) , Müller, Amelie Johanna (Author) , Beck-Wödl, S. (Author) , Haack, T. B. (Author) , Schneider, H. (Author) , Fuchs, H. (Author) , Teufel, U. (Author) , Gramer, Gwendolyn (Author) , Hannibal, L. (Author) , Spiekerkötter, Ute (Author)
Format: Article (Journal)
Language:English
Published: 11 November 2020
In: BMC pediatrics
Year: 2020, Volume: 20, Pages: 1-7
ISSN:1471-2431
DOI:10.1186/s12887-020-02409-x
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s12887-020-02409-x
Get full text
Author Notes:S.C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A.J. Mueller, S. Beck-Wödl, T.B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal and U. Spiekerkoetter
Description
Summary:Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane.
Item Description:Gesehen am 10.06.2021
Physical Description:Online Resource
ISSN:1471-2431
DOI:10.1186/s12887-020-02409-x

Similar Items